Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgif1tm1Ychn mutation
(0 available);
any
Tgif1 mutation
(52 available)
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mortality/aging
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• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), lethality increases; in N4F4 matings, only 13 heterozygous vs 25 wild-type embryos are recovered instead of 50 expected
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nervous system
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• 22/149 N2F2 heterozygotes had a hypoplastic head phenotype
• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), penetrance of brain defects increases
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• 3/149 heterozygotes in the N2F2 generation displayed exencephaly
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Allelic Composition |
Tgif1tm1Ychn/Tgif1+
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Genetic Background |
involves: 129X1/SvJ * C57BL/6 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgif1tm1Ychn mutation
(0 available);
any
Tgif1 mutation
(52 available)
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mortality/aging
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• homozygosity results in some lethality; between E10.5-12.5, ratio of homozygous:heterozygous embryos is ~0.6:1 instead of 1:1 expected in N2F2 generation
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• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), lethality increases; in N4F4 matings, only 6 homozygotes vs 25 wild-type embryos are recovered
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nervous system
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• 10/67 N2F2 homozygotes displayed a hypoplastic head phenotype
• with increasing C57BL/6 genetic background (more backcrosses to C57BL/6 mice), penetrance of brain defects increases
• at E11.5, some embryos exhibit exencephaly and neuroepithelium is exposed outward with abnormal pitting
• at E11.5-12.5, neuroepithelial folding is abnormal and there are local thickenings preventing ventricular expansion in embryos with hypoplastic head phenotype
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• in embryos with hypoplastic head phenotype, separate telecephalic and diencephalic vesicles are not generated and only single vesicle is formed
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• 10/67 N2F2 homozygotes displayed a hypoplastic head phenotype with reduced hindbrain development
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• observed in limited numbers of embryos
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• brain ventricle size is reduced in homozygotes with hypoplastic head phenotype
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• 2 null N1F1 embryos showed exencephaly
• 14/67 N2F2 homozygotes had exencephaly
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craniofacial
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• homozygous embryos show midface malformations
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• features include protruded nose and long upper lip with deficient philtrum
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growth/size/body
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• homozygous embryos show midface malformations
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• features include protruded nose and long upper lip with deficient philtrum
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• observed in a limited number of embryos
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